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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| HMGCS2 | 3158 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) | 1 | - |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 16940161 | 2006 | Cell line : CaCo 2 Source : ATCC Sample Type : - No. of Sample : - Stage : - | Chromatin immunoprecipitation assay, immunohistochemistry | Unknown | - | HMGCS2 protein expression is down-regulated preferentially in moderately and poorly differentiated carcinomas. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] |
| Chromosome | 1 |
| Location | 1p13-p12 |
| Start | 120290619 |
| End | 120311555 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 20937 |
| OMIM ID | 600234 |
| HGNC ID | HGNC:5008 |
| Unigene ID | Hs.59889 |
| Ensembl ID | ENSG00000134240 |
| PharmGKB ID | PA29338 |
mRNA Information
| mRNA ID | NM_001166107.1 |
|---|---|
| Exon | join(194..385,4500..4954,9844..10008,11688..11853, 13529..13699,15740..15846,16452..16577,18218..18329, 20285..21130) | mRNA Sequence | Download Select all |
| Length | 2351 |
Protein Information
| Protein ID | NP_001159579.1 |
|---|---|
| Protein Name | 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 466 |
| Uniprot ID | P78423 |
| Ensembl Protein ID | ENSP00000006053 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Butanoate metabolism | hsa00650 |
| Metabolic pathways | hsa01100 |
| PPAR signaling pathway | hsa03320 |
| Synthesis and degradation of ketone bodies | hsa00072 |
| Terpenoid backbone biosynthesis | hsa00900 |
| Valine, leucine and isoleucine degradation | hsa00280 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00827 | 53-423 | init_cond_enzymes |
| cl09938 | 53-423 | cond_enzymes superfamily |
| pfam08540 | 224-506 | HMG_CoA_synt_C |
| cl08483 | 224-506 | HMG_CoA_synt_C superfamily |
| pfam01154 | 53-223 | HMG_CoA_synt_N |
| pfam08545 | 161-220 | ACP_syn_III |
| TIGR01833 | 50-506 | HMG-CoA-S_euk |
| PLN02577 | 51-508 | PLN02577 |
| COG3425 | 54-506 | PksG |
| TIGR01835 | 54-466 | HMG-CoA-S_prok |
| TIGR00748 | 53-429 | HMG_CoA_syn_Arc |
| PRK04262 | 52-441 | PRK04262 |
Ontology Information
| HPRD ID | 1718 |
|---|---|
| Molecular Class | Enzyme: Synthase |
| Molecular Function | Receptor activity (GO:0004872) |
| Biological Process | Cell communication (GO:0007154); Cell surface receptor linked signal transduction (GO:0007166); Cell adhesion (GO:0007155) |
Drug Information
No matching records could be found.